Short Description

NGS genetic DNA test detecets for variant and mutation detection in UROC1 gene for Urocanase deficiency

PreTest Information

Clinical History of Patient who is going for UROC1 Gene Urocanase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with UROC1 Gene Urocanase deficiency

Detail Description

UROC1 Gene Urocanase Deficiency NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

Urocanase deficiency is a rare genetic disorder that affects the UROC1 gene. This gene provides instructions for making an enzyme called urocanase, which is involved in the breakdown of histidine, an amino acid found in many proteins. Urocanase deficiency leads to the accumulation of toxic byproducts in the body, which can cause a variety of symptoms.

Symptoms of Urocanase Deficiency

The symptoms of urocanase deficiency can vary widely depending on the severity of the disorder. Some common symptoms include:

• Neurological problems such as seizures, intellectual disability, and developmental delay
• Behavioral problems such as aggression and hyperactivity
• Skin lesions that may be itchy or painful
• Urinary problems such as frequent urination and bedwetting
• Joint pain and stiffness
• Eye problems such as cataracts and vision loss

Diagnosis of Urocanase Deficiency

Urocanase deficiency is diagnosed through a genetic test that looks for mutations in the UROC1 gene. This test is typically performed using next-generation sequencing (NGS) technology, which allows for rapid and accurate analysis of multiple genes at once. The cost of a NGS genetic DNA test for urocanase deficiency is typically around INR 20000.

If a genetic mutation is identified, additional testing may be necessary to confirm the diagnosis and assess the severity of the disorder. This may include blood tests, urine tests, and imaging studies such as an MRI or CT scan.

Treatment of Urocanase Deficiency

There is currently no cure for urocanase deficiency, and treatment is focused on managing the symptoms of the disorder. This may include:

• Medications to control seizures, behavioral problems, and pain
• Dietary changes to avoid histidine-rich foods
• Skin care to manage lesions
• Physical therapy to manage joint pain and stiffness

Conclusion

Urocanase deficiency is a rare genetic disorder that can cause a wide range of symptoms. Diagnosis is typically made through a genetic test using NGS technology, which can cost around INR 20000. While there is currently no cure for urocanase deficiency, treatment can help manage the symptoms of the disorder.

If you suspect that you or a loved one may have urocanase deficiency, it is important to speak with a genetic counselor or healthcare provider for guidance and support.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for UROC1 Gene Urocanase deficiency NGS Genetic DNA Test